The Pathogenesis of Pierre Robin Sequence through a Review of SOX9 and Its Interactions.

ABSTRACT: The literature does not offer any review of the pathogenesis of the clinical features of syndromes with Pierre Robin sequence (PRS). The senior author (MMA) proposed a hypothesis that SOX9 and its interactions may play a key role in this pathogenesis. The current review aims to test this hypothesis.

Methods

Three literature searches were made: the first aimed to document the main syndromes associated with PRS; and the second was to document the main functions of SOX9 in development; and the third was to investigate if SOX9 and its interactions may play a role in the pathogenesis.

Results

SOX9 is the main positive regulator in the development of the mandibular cartilage and it also enhances collagen type II (the main collagen type in cartilage) expression in the mandibular car

SUBMITTER: Al-Qattan MM 

PROVIDER: S-EPMC8994080 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature